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IPCAPS: an R package for iterative pruning to capture population structure

BACKGROUND: Resolving population genetic structure is challenging, especially when dealing with closely related or geographically confined populations. Although Principal Component Analysis (PCA)-based methods and genomic variation with single nucleotide polymorphisms (SNPs) are widely used to descr...

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Autores principales: Chaichoompu, Kridsadakorn, Abegaz, Fentaw, Tongsima, Sissades, Shaw, Philip James, Sakuntabhai, Anavaj, Pereira, Luísa, Van Steen, Kristel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6427891/
https://www.ncbi.nlm.nih.gov/pubmed/30936940
http://dx.doi.org/10.1186/s13029-019-0072-6
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author Chaichoompu, Kridsadakorn
Abegaz, Fentaw
Tongsima, Sissades
Shaw, Philip James
Sakuntabhai, Anavaj
Pereira, Luísa
Van Steen, Kristel
author_facet Chaichoompu, Kridsadakorn
Abegaz, Fentaw
Tongsima, Sissades
Shaw, Philip James
Sakuntabhai, Anavaj
Pereira, Luísa
Van Steen, Kristel
author_sort Chaichoompu, Kridsadakorn
collection PubMed
description BACKGROUND: Resolving population genetic structure is challenging, especially when dealing with closely related or geographically confined populations. Although Principal Component Analysis (PCA)-based methods and genomic variation with single nucleotide polymorphisms (SNPs) are widely used to describe shared genetic ancestry, improvements can be made especially when fine-scale population structure is the target. RESULTS: This work presents an R package called IPCAPS, which uses SNP information for resolving possibly fine-scale population structure. The IPCAPS routines are built on the iterative pruning Principal Component Analysis (ipPCA) framework that systematically assigns individuals to genetically similar subgroups. In each iteration, our tool is able to detect and eliminate outliers, hereby avoiding severe misclassification errors. CONCLUSIONS: IPCAPS supports different measurement scales for variables used to identify substructure. Hence, panels of gene expression and methylation data can be accommodated as well. The tool can also be applied in patient sub-phenotyping contexts. IPCAPS is developed in R and is freely available from http://bio3.giga.ulg.ac.be/ipcaps
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spelling pubmed-64278912019-04-01 IPCAPS: an R package for iterative pruning to capture population structure Chaichoompu, Kridsadakorn Abegaz, Fentaw Tongsima, Sissades Shaw, Philip James Sakuntabhai, Anavaj Pereira, Luísa Van Steen, Kristel Source Code Biol Med Software BACKGROUND: Resolving population genetic structure is challenging, especially when dealing with closely related or geographically confined populations. Although Principal Component Analysis (PCA)-based methods and genomic variation with single nucleotide polymorphisms (SNPs) are widely used to describe shared genetic ancestry, improvements can be made especially when fine-scale population structure is the target. RESULTS: This work presents an R package called IPCAPS, which uses SNP information for resolving possibly fine-scale population structure. The IPCAPS routines are built on the iterative pruning Principal Component Analysis (ipPCA) framework that systematically assigns individuals to genetically similar subgroups. In each iteration, our tool is able to detect and eliminate outliers, hereby avoiding severe misclassification errors. CONCLUSIONS: IPCAPS supports different measurement scales for variables used to identify substructure. Hence, panels of gene expression and methylation data can be accommodated as well. The tool can also be applied in patient sub-phenotyping contexts. IPCAPS is developed in R and is freely available from http://bio3.giga.ulg.ac.be/ipcaps BioMed Central 2019-03-20 /pmc/articles/PMC6427891/ /pubmed/30936940 http://dx.doi.org/10.1186/s13029-019-0072-6 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Software
Chaichoompu, Kridsadakorn
Abegaz, Fentaw
Tongsima, Sissades
Shaw, Philip James
Sakuntabhai, Anavaj
Pereira, Luísa
Van Steen, Kristel
IPCAPS: an R package for iterative pruning to capture population structure
title IPCAPS: an R package for iterative pruning to capture population structure
title_full IPCAPS: an R package for iterative pruning to capture population structure
title_fullStr IPCAPS: an R package for iterative pruning to capture population structure
title_full_unstemmed IPCAPS: an R package for iterative pruning to capture population structure
title_short IPCAPS: an R package for iterative pruning to capture population structure
title_sort ipcaps: an r package for iterative pruning to capture population structure
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6427891/
https://www.ncbi.nlm.nih.gov/pubmed/30936940
http://dx.doi.org/10.1186/s13029-019-0072-6
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